Gut microbiota–host interactions in inborn errors of immunity

Riccardo Castagnoli, Francesca Pala, Marita Bosticardo, Amelia Licari, Ottavia M. Delmonte, Anna Villa, Gian Luigi Marseglia, Luigi Daniele Notarangelo

Research output: Contribution to journalReview articlepeer-review


Inborn errors of immunity (IEI) are a group of disorders that are mostly caused by genetic mutations affecting immune host defense and immune regulation. Although IEI present with a wide spectrum of clinical features, in about one third of them various degrees of gastrointestinal (GI) involvement have been described and for some IEI the GI manifestations represent the main and peculiar clinical feature. The microbiome plays critical roles in the education and function of the host’s innate and adaptive immune system, and imbalances in microbiota-immunity interactions can contribute to intestinal pathogenesis. Microbial dysbiosis combined to the impairment of immunosurveillance and immune dysfunction in IEI, may favor mucosal permeability and lead to inflammation. Here we review how immune homeostasis between commensals and the host is established in the gut, and how these mechanisms can be disrupted in the context of primary immunodeficiencies. Additionally, we highlight key aspects of the first studies on gut microbiome in patients affected by IEI and discuss how gut microbiome could be harnessed as a therapeutic approach in these diseases.

Original languageEnglish
Article number1416
Pages (from-to)1-19
Number of pages19
JournalInternational Journal of Molecular Sciences
Issue number3
Publication statusPublished - Feb 1 2021


  • Dysbiosis
  • Gastrointestinal pathology
  • Gut microbiota
  • Immune dysregulation
  • Inborn errors of immunity
  • Primary immunodeficiencies

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry


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